Cardenas Juan, Cardenas Jose, Lee Andrew, Brown Martha, Galan Fernando, Scimeme Jason, Labilloy Anatalia
Pediatric Medicine, University of Florida College of Medicine - Jacksonville, Jacksonville, USA.
Pediatric Critical Care, University of Florida Health, Gainesville, USA.
Cureus. 2021 Oct 24;13(10):e19006. doi: 10.7759/cureus.19006. eCollection 2021 Oct.
Spinal muscular atrophy with respiratory distress type 1 (SMARD 1) is a rare autosomal recessive disease characterized by distal muscular atrophy and respiratory distress. It presents between six weeks and six months of age, with an eventual requirement of respiratory support. To date, no curative treatment to attenuate or stop the clinical deterioration has been found; therefore, supportive treatment is the corner stone of management. We report a 12-week-old infant with SMARD1 initially diagnosed and managed as a case of infant botulism secondary to a history of significant exposure to honey. SMARD1 and infant botulism all share characteristic clinical features, namely, respiratory distress, hypotonia, and autonomic dysfunction with typical onset of less than one year of age. This case report illustrates that SMARD1, SMA Type 1, and infant botulism share common clinical features. It is important to maintain a broad differential when evaluating an infant with hypotonia, especially when there is a lack of clinical response to conventional medical interventions directed toward the working diagnosis.
1型伴有呼吸窘迫的脊髓性肌萎缩症（SMARD 1）是一种罕见的常染色体隐性疾病，其特征为远端肌肉萎缩和呼吸窘迫。它在6周龄至6月龄之间发病，最终需要呼吸支持。迄今为止，尚未发现能够减轻或阻止临床病情恶化的治愈性治疗方法；因此，支持性治疗是管理的基石。我们报告了一名12周龄的SMARD1婴儿，最初因有大量食用蜂蜜史而被诊断并当作婴儿肉毒中毒病例进行处理。SMARD1和婴儿肉毒中毒都具有特征性临床特征，即呼吸窘迫、肌张力减退和自主神经功能障碍，典型发病年龄小于1岁。本病例报告表明，SMARD1、1型脊髓性肌萎缩症（SMA）和婴儿肉毒中毒具有共同的临床特征。在评估肌张力减退的婴儿时，尤其是对针对初步诊断的常规医学干预缺乏临床反应时，保持广泛的鉴别诊断很重要。
